M. Baumgartner

Publications279
h-index48
Citations8,055
Highly Influential Citations386
Claim Author Page
Author pages are created from data sourced from our academic publisher partnerships and public sources.

Recommended Authors

  • D. Rosenblatt
  • 324 Publications • 13,637 Citations
  • S. Kölker
  • 296 Publications • 7,932 Citations
  • G. Hoffmann
  • 669 Publications • 20,067 Citations
  • B. Fowler
  • 182 Publications • 12,729 Citations
  • Publications
  • Influence
Mutations in antiquitin in individuals with pyridoxine-dependent seizures
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a…
View on Springer
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
TLDR
These guidelines aim to provide a trans-European consensus to guide practitioners, set standards of care and to help to raise awareness, and highlight gaps in knowledge that must be filled by future research.
View on Springer
Recommendations on the diagnosis and management of Niemann-Pick disease type C.
View on PubMed
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
View on PubMed
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
TLDR
Clinical and biochemical characteristics of these severe disorders of remethylation defects are summarized to provide guidelines on diagnosis and management and to improve survival and incidence of severe complications.
View on Springer
Clinical presentation and outcome in a series of 88 patients with the cblC defect
TLDR
The survey points to the need for prospective studies in a large cohort using agreed treatment modalities and monitoring criteria to determine the long-term neurological and ophthalmological outcome of cblC patients.
View on Springer
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
TLDR
The data show that the outcome of propionic acidemia is still unfavourable, in spite of improved clinical management, and that Impairment of neurocognitive development is of special concern.
View on Springer
Gene identification for the cblD defect of vitamin B12 metabolism.
TLDR
Mutations in a gene designated MMADHC are responsible for the cblD defect in vitamin B12 metabolism, andTransfection of wild-type MMAD HC rescued the cellular phenotype, and the functional importance of mutant alleles was shown by means of transfection with mutant constructs.
View on PubMed
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
TLDR
This work identifies LMBRD1 as the gene underlying the cblF defect of cobalamin metabolism and suggests that LMBD1 is a lysosomal membrane exporter for cobalamina.
View on Nature
Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline
TLDR
The clinical phenotype of the sibs is described in detail and a relative deficiency of urea cycle intermediates during fasting periods results in a paradoxical hyperammonaemia, and the results of ornithine loading tests and indirect enzyme studies corroborating the biological significance of the defect in P5CS in vivo are shown.
View on Springer
...
...